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Case Reports
. 2012 Apr;16(2):306-9.
doi: 10.1007/s10157-011-0542-x. Epub 2011 Oct 4.

Gitelman syndrome: novel mutation and long-term follow-up

Aditi Sinha  1 , Petr Lněnička, Biswanath Basu, Ashima Gulati, Pankaj Hari, Arvind Bagga
Affiliations
Case Reports

Gitelman syndrome: novel mutation and long-term follow-up

Aditi Sinha et al. Clin Exp Nephrol. 2012 Apr.

Abstract

We report a case of Gitelman syndrome presenting with fatigue, paresthesias, weakness of limbs and neck muscles since 2.5 years of age. Investigations showed hypokalemia and hypomagnesemia with urinary magnesium wasting. Genetic analysis revealed the presence of a novel homozygous mutation in the SLC12A3 gene (c.2879_2883+9ins14bp, p.Val 960 Glu fsx12). Management with potassium and magnesium supplements and spironolactone resulted in a significant improvement in symptoms. Over a follow-up of 11 years, the patient showed satisfactory growth and physical development.

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